| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166242648A>G | CA1944040 | SCN1A-AS1,SCN9A | c.3481T>C (p.Trp1161Arg) c.563T>C (n.563T>C) c.3448T>C (p.Trp1150Arg) c.2182T>C n.612-5547A>G c.3094T>C (p.Trp1032Arg) c.2737T>C (p.Trp913Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166242648A>C | CA349070802 | SCN1A-AS1,SCN9A | c.3481T>G (p.Trp1161Gly) c.563T>G (n.563T>G) c.3448T>G (p.Trp1150Gly) c.2182T>G n.612-5547A>C c.3094T>G (p.Trp1032Gly) c.2737T>G (p.Trp913Gly) | dbSNP |
| 2 | g.166242648A= | CA341939 | SCN1A-AS1,SCN9A | c.3481T= (p.Trp1161=) c.563T= (n.563T=) c.3448T= (p.Trp1150=) c.2182T= n.612-5547A= c.3094T= (p.Trp1032=) c.2737T= (p.Trp913=) | dbSNP |